Uterine hypoplasia

Summary

Uterine hypoplasia (MONDO:0015843) is a disease. A subtype of uterine disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	uterine hypoplasia
Mondo ID	MONDO:0015843
Orphanet	180139
ICD-11	1858530341
UMLS	C0266399
MedGen	120575
GARD	0020184
MedDRA	10063146
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of uterine disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › female reproductive system disorder › uterine disorder › uterine hypoplasia

Related subtypes (20): pyometritis, endometrial disorder, female infertility of uterine origin, uterine inflammatory disease, chronic subinvolution of uterus, adhesions of uterus, cervix disorder, uterine polyp, pelvic congestion syndrome, uterine inversion, placenta disorder, hemometra, parametritis, cordiform uterus, septate uterus, bicornuate uterus, agenesis and aplasia of uterine body, tumor of uterus, florid cystic endosalpingiosis of the uterus, pregnancy, cornual

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
267801	46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn		Uncertain significance	criteria provided, single submitter

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.